Variant report

Variant	nsv933758
Chromosome Location	chr13:94299302-94421378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:94330808..94333643-chr13:94334491..94337168,2	MCF-7	breast:
2	chr13:92008178..92010162-chr13:94344904..94347693,2	K562	blood:
3	chr13:94398293..94400533-chr13:94400548..94403460,2	MCF-7	breast:
4	chr13:94403218..94405199-chr13:94408583..94411196,2	MCF-7	breast:
5	chr13:94398293..94400533-chr13:94400548..94403460,2	MCF-7	breast:
6	chr13:94403218..94405199-chr13:94408583..94411196,2	MCF-7	breast:
7	chr13:93877752..93880297-chr13:94379903..94382162,2	MCF-7	breast:
8	chr13:94330808..94333643-chr13:94334491..94337168,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-14	chr13:94416883-94417110	uc_355_-
2	lnc-GPR180-9	chr13:94416883-94417110	uc_355_+

No data

Variant related genes	Relation type
ENSG00000183098	chromatin interactions

Extended variants
information (count: 4078 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4078 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540868926	chr13:94299313-94299314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17234782	chr13:94299344-94299345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148305750	chr13:94299377-94299378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372638336	chr13:94299383-94299384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557342362	chr13:94299434-94299435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141566599	chr13:94299499-94299500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569641493	chr13:94299500-94299501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577210665	chr13:94299519-94299520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1933778	chr13:94299543-94299544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566282232	chr13:94299553-94299554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147526675	chr13:94299554-94299555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558418949	chr13:94299580-94299581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184786651	chr13:94299676-94299677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370098697	chr13:94299743-94299744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571745023	chr13:94299811-94299812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537560395	chr13:94299816-94299817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557198876	chr13:94299823-94299824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573788849	chr13:94299827-94299828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138560550	chr13:94299832-94299833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116816610	chr13:94299845-94299846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555627909	chr13:94299876-94299877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572277162	chr13:94299878-94299879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540797620	chr13:94299919-94299920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143946631	chr13:94299929-94299930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147302416	chr13:94299940-94299941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139089318	chr13:94300010-94300011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373920529	chr13:94300065-94300066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563283047	chr13:94300068-94300069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189487823	chr13:94300127-94300128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371604469	chr13:94300151-94300152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182122476	chr13:94300186-94300187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566343040	chr13:94300241-94300242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528818438	chr13:94300244-94300245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551972561	chr13:94300279-94300280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186716818	chr13:94300292-94300293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3915918	chr13:94300311-94300312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537497176	chr13:94300397-94300398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557425648	chr13:94300436-94300437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567695656	chr13:94300444-94300445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189638294	chr13:94300463-94300464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181772490	chr13:94300483-94300484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185347794	chr13:94300526-94300527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534613214	chr13:94300679-94300680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16949085	chr13:94300687-94300688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74493910	chr13:94300711-94300712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577409222	chr13:94300730-94300731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543250756	chr13:94300737-94300738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559252467	chr13:94300741-94300742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376667954	chr13:94300757-94300758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573681118	chr13:94300763-94300764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94295800-94301600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94296400-94304800	Weak transcription	Fetal Brain Female	brain
3	chr13:94300400-94301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:94301600-94302200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:94302200-94302400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:94302400-94302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:94302400-94302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:94302600-94303000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:94302600-94303200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:94302600-94303800	Enhancers	Fetal Brain Male	brain
11	chr13:94302600-94304800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:94302800-94303200	Enhancers	Fetal Heart	heart
13	chr13:94302800-94303400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:94303000-94303600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:94303200-94303600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:94303200-94307400	Weak transcription	Fetal Heart	heart
17	chr13:94303600-94304000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:94303800-94304400	Weak transcription	Fetal Brain Male	brain
19	chr13:94304400-94306000	Enhancers	Fetal Brain Male	brain
20	chr13:94304600-94305000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr13:94304800-94305600	Enhancers	Fetal Brain Female	brain
22	chr13:94306000-94306400	Weak transcription	Fetal Brain Male	brain
23	chr13:94306400-94307600	Enhancers	Fetal Brain Male	brain
24	chr13:94307400-94307800	Enhancers	Fetal Heart	heart
25	chr13:94313600-94314200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr13:94316000-94316200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr13:94318200-94319600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr13:94318600-94319200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:94321800-94322000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:94322000-94326800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:94323000-94323400	Enhancers	Fetal Brain Female	brain
32	chr13:94323200-94324200	Enhancers	Aorta	Aorta
33	chr13:94323400-94323800	Enhancers	Colon Smooth Muscle	Colon
34	chr13:94323800-94324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:94323800-94324200	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr13:94324000-94324200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:94324200-94325400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:94324200-94328600	Weak transcription	Aorta	Aorta
39	chr13:94325600-94325800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:94326200-94327000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:94326600-94327000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:94326800-94327000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:94327000-94341800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr13:94328600-94328800	Enhancers	Aorta	Aorta
45	chr13:94330800-94331200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:94331200-94336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:94332000-94333600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:94332600-94333200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr13:94332600-94333200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:94333000-94333400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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